Charcot-Marie-Tooth disease: CMT2, CMT4, and others
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By Francisco de Assis Aquino Gondim MD MSc PhD (Dr. Gondim of Universidade de Federal Ceará received travel grants to attend scientific meetings from Biogen, Genzyme, Novartis, Baxter, and Aché Laboratórios.) Florian P Thomas MD MA PhD MS (Dr. Thomas, Director of the Clinical Research Unit, the National MS Society Multiple Sclerosis Center, and the Hereditary Neuropathy Foundation Center of Excellence at St. Louis University, has no relevant financial relationships to disclose.) Originally released January 5, 2004; last updated June 1, 2016; expires June 1, 2019
منابع مشابه
[Guidelines for molecular diagnosis of Charcot-Marie-Tooth disease].
INTRODUCTION Charcot-Marie-Tooth disease (CMT) is the most frequent form of inherited neuropathy. In accordance with the inheritance pattern and degree of slowing of motor conduction velocity (MCV) of the median nerve, CMT encompasses five main forms: CMT1 (autosomal dominant [AD] or X-linked transmission and MCV < 38 m/s); CMT2 (AD or X-linked transmission and MCV > 38 m/s); CMT4 (autosomal re...
متن کاملMutilating neuropathic ulcerations in a chromosome 3ql3-q22 linked Charcot-Marie- Tooth disease type 2B family
Received 12 November 1996 and in revised form 16 January 1997 Accepted 14 February 1997 Abstract Background-Charcot-Marie-Tooth disease type 2 (CMT2) or hereditary motor and sensory neuropathy type II (HMSN II) is an inherited axonal neuropathy of the peripheral nervous system. Three autosomal dominant CMT2 loci have been located on chromosomes lp35-p36 (CMT2A), 3ql3-q22 (CMT2B), and 7pl4 (CMT2...
متن کاملMutilating neuropathic ulcerations in a chromosome 3q13-q22 linked Charcot-Marie-Tooth disease type 2B family.
BACKGROUND Charcot-Marie-Tooth disease type 2 (CMT2) or hereditary motor and sensory neuropathy type II (HMSN II) is an inherited axonal neuropathy of the peripheral nervous system. Three autosomal dominant CMT2 loci have been located on chromosomes 1p35-p36 (CMT2A), 3q13-q22 (CMT2B), and 7p14 (CMT2D) indicating that CMT2 is a genetically heterogeneous disorder. METHODS A CMT2 family was exam...
متن کاملThe death panel for Charcot-Marie-Tooth panels.
C harcot-Marie-Tooth (CMT) disease is a category of hereditary neuropathy. Rather than 1 disease, CMT is a syndrome of several clinically and genetically distinct disorders (Table and for updated listings: http//www. molgen.ua.ac.be/CMTMutations/Mutations/MutByGene. cfm). 1 The various subtypes of CMT have been traditionally classified according to the nerve conduction velocities and predominan...
متن کاملCharcot-Marie-Tooth Disease: Seventeen Causative Genes
Charcot-Marie-Tooth disease (CMT) is the most common form of inherited motor and sensory neuropathy. Moreover, CMT is a genetically heterogeneous disorder of the peripheral nervous system, with many genes identified as CMT-causative. CMT has two usual classifications: type 1, the demyelinating form (CMT1); and type 2, the axonal form (CMT2). In addition, patients are classified as CMTX if they ...
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تاریخ انتشار 2017